An observational study in Newborn, Hereditary Disease and Genetic Predisposition to Disease, sponsored by Children's Hospital of Fudan University. Recruiting at 1 site in China. Open to participants aged Up to 28 Days, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-03-16.
Sponsored by Children's Hospital of Fudan University · Observational
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.
There are about 900,000 new cases of birth defects in China every year. There are a large number of hereditary diseases, such as primary immune deficiency diseases, genetic metabolic diseases and multiple malformation syndrome, etc. It is important to identify and diagnose these diseases early in life, which can optimize the treatment strategy, improve the quality of life, and achieve the purpose of accurate treatment. To improve the level of diagnosis and prevention of genetic diseases in children is conducive to the birth and education of newborn in our country. The China Neonatal Genome Project is an important part of the China Human single Target Genome Project. The investigators plan to complete genetic testing of 100,000 newborns within 5 years, establish genetic testing standards for genetic diseases of newborns, and promote precise intervention for birth defects. The Genetic Counseling Branch of China Genetics Society, the Pediatrics Hospital affiliated to Fudan University and hundreds of hospitals in China jointly launched the Chinese newborn Genome Project in Shanghai, China. The project will carry out the genetic testing of 100000 neonates in the next 5 years. The study physician and genetic counselor will provide the consultation to families utilizing all available medical information. In the sequencing analysis of the study, this will include the medical history, physical exam, family history, standard newborn screening report. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
This study's planned enrollment of 100,000 is above the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Children's Hospital of Fudan University is the lead sponsor of 268 studies on the registry; 95 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The subjects were all from all the member organizations participating in the China Newborn Genome Project. They were hospitalized in the neonatal department of each member hospital.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Infants and their parents enrolled through Neonatal Intensive Care Unit of member hospitals who are un-randomized to receive genomic sequencing. Results disclosure sessions will include a discussion of: family history report, results from standard newborn screening, any potentially medically relevant findings from the baby's medical history/physical exam, and the results of the genomic sequencing report.
Genetic: Genomic sequencing
Both sick and high-risk newborn un-randomized to receive genomic sequencing will receive a Genomic Newborn Sequencing Report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset disease.
Number of gene sequencing data in neonatal gene bank
Each newborn that was sequenced was counted as 1. Keep all the data in the gene bank, and finally calculate the number of completed gene sequencing data.
Time frame: From birth to completion of genetic screening, the process last up to 3 months.
Gene mutation rate
Taking the number of newborn babies as denominator and the number of neonates with gene mutation detected in gene sequencing as molecules, the whole neonatal gene mutation rate in China was obtained.
Time frame: From birth to completion of genetic screening, the process last up to 3 months.
Started Aug 2016 (actual). Primary completion is estimated for Dec 2026, 124 months after the start.
How these figures are worked out, and which studies are left out of them.
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Children's Hospital of Fudan University →